Alpha 2.0
Login Register
» Articles » PMID: 15505399

Management of Movement Disorders in Glutaryl-CoA Dehydrogenase Deficiency: Anticholinergic Drugs and Botulinum Toxin As Additional Therapeutic Options

Overview
Journal J Inherit Metab Dis
Publisher Wiley
Date 2004 Oct 27
PMID 15505399
Citations 9
Authors
A P Burlina
G Zara
G F Hoffmann
J Zschocke
A B Burlina
Affiliations
Soon will be listed here.
Abstract

Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase, an enzyme responsible for the catabolism of lysine, hydroxylysine and tryptophan. The most important neurological symptoms include dyskinesia and dystonia, which can be focal, segmental or generalized. Treatment of the extrapyramidal syndrome is often unsatisfactory. We report our experience in the treatment of generalized and focal dystonia with anticholinergic drugs and botulinum toxin type A, respectively. Both therapies proved beneficial.

Citing Articles

Orthopaedic manifestations of glutaric acidemia Type 1.

Imerci A, Strauss K, Oleas-Santillan G, Miller F J Child Orthop. 2020; 14(5):473-479.

PMID: 33204356 PMC: 7666789. DOI: 10.1302/1863-2548.14.200059.

Update on pediatric dystonias: etiology, epidemiology, and management.

Fernandez-Alvarez E, Nardocci N Degener Neurol Neuromuscul Dis. 2019; 2:29-41.

PMID: 30890876 PMC: 6065605. DOI: 10.2147/DNND.S16082.

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.

Biasucci G, Morelli N, Natacci F, Mastrangelo M Ital J Pediatr. 2018; 44(1):8.

PMID: 29335023 PMC: 5769368. DOI: 10.1186/s13052-018-0450-8.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Muhlhausen C, Maier E, Heringer J, Assmann B, Burgard P J Inherit Metab Dis. 2016; 40(1):75-101.

PMID: 27853989 DOI: 10.1007/s10545-016-9999-9.

Diagnosis of dystonic syndromes--a new eight-question approach.

Bertram K, Williams D Nat Rev Neurol. 2012; 8(5):275-83.

PMID: 22430107 DOI: 10.1038/nrneurol.2012.39.

References
1.
Kyllerman M, Skjeldal O, Lundberg M, Holme I, Jellum E, von Dobeln U . Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord. 1994; 9(1):22-30. DOI: 10.1002/mds.870090105. View
2.
Strauss K, Puffenberger E, Robinson D, Morton D . Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003; 121C(1):38-52. DOI: 10.1002/ajmg.c.20007. View
3.
Hoffmann G, Athanassopoulos S, Burlina A, Duran M, De Klerk J, Lehnert W . Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996; 27(3):115-23. DOI: 10.1055/s-2007-973761. View
4.
Rakocevic G, Lyons K, Wilkinson S, Overman J, Pahwa R . Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria. Stereotact Funct Neurosurg. 2004; 82(2-3):80-3. DOI: 10.1159/000077405. View
5.
Montecucco C, Schiavo G, Tugnoli V, De Grandis D . Botulinum neurotoxins: mechanism of action and therapeutic applications. Mol Med Today. 1996; 2(10):418-24. DOI: 10.1016/1357-4310(96)84845-3. View